GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GenePRPH
Other namesNEF4; PRPH1
Gene nameperipherin
Gene inheritanceSALS genes
Discovery methodUnknown
CategoryNEUROFILAMENTS, CYTOSKELETON AND MICROTUBULE DEFECTS
Chromosome12q12
GRCh37 (hg19)Chr12:49688909-49692481 ( +)
GRCh38 (hg38)Chr12:49295013-49298698(+)
BackgroundTransgenic mice over-expressing peripherin develop motor neuron degeneration
ResultFew mutations found, not a common cause of ALS
Mutations0
Patients0

BIOINFORMATICS

Entrez Gene  UCSC Browser  Protein Structure  OMIM  Genecards  Full Literature  ProtScale  Sequence    Uniprot
iHop  Pathway  GeneTest  ALS review                Neuromuscular  Animal models
GeneMANIA  AmiGO  Gene Wiki  Wolfram Alpha  Ensembl  NCBI  WikiGenes  Life Science DB(Japan)  ALSGene    GeneNetwork
Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB ALS Data Browser

TOP META-ANALYSIS RESULT FROM ALSGENE

For more details on this and other meta-analysis results in this region please visit the ALSGene database

ANIMAL MODELS

                               

KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
Gros-Louis2004A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosisFull_Paper
Leung2004A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosisFull_Paper